Aliases for BPGM Gene
External Ids for BPGM Gene
Previous GeneCards Identifiers for BPGM Gene
2,3-diphosphoglycerate (2,3-DPG) is a small molecule found at high concentrations in red blood cells where it binds to and decreases the oxygen affinity of hemoglobin. This gene encodes a multifunctional enzyme that catalyzes 2,3-DPG synthesis via its synthetase activity, and 2,3-DPG degradation via its phosphatase activity. The enzyme also has phosphoglycerate phosphomutase activity. Deficiency of this enzyme increases the affinity of cells for oxygen. Mutations in this gene result in hemolytic anemia. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]
GeneCards Summary for BPGM Gene
BPGM (Bisphosphoglycerate Mutase) is a Protein Coding gene. Diseases associated with BPGM include Erythrocytosis, Familial, 8 and Erythrocytosis, Familial, 4. Among its related pathways are Glycine, serine and threonine metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include intramolecular transferase activity, phosphotransferases and bisphosphoglycerate 2-phosphatase activity. An important paralog of this gene is PGAM1.
UniProtKB/Swiss-Prot Summary for BPGM Gene
Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 22.214.171.124) activity.